ClinVar Miner

List of variants in gene THPO studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000460.4(THPO):c.*35G>A rs6141 0.65138
NM_000460.4(THPO):c.-136T>C rs956732 0.54428
NM_000460.4(THPO):c.*59G>A rs78565404 0.06355
NM_000460.4(THPO):c.*482A>T rs3804618 0.06309
NM_000460.4(THPO):c.1030A>G (p.Thr344Ala) rs35794435 0.00685
NM_000460.4(THPO):c.-56G>A rs187556243 0.00053
NM_000460.4(THPO):c.*366G>C rs542821225 0.00047
NM_000460.4(THPO):c.356G>A (p.Arg119His) rs143216798 0.00038
NM_000460.4(THPO):c.*18G>A rs180680111 0.00034
NM_000460.4(THPO):c.*404G>A rs573846929 0.00013
NM_000460.4(THPO):c.579C>T (p.Asn193=) rs202166253 0.00010
NM_000460.4(THPO):c.889A>G (p.Thr297Ala) rs530613857 0.00010
NM_000460.4(THPO):c.*27A>G rs201864435 0.00009
NM_000460.4(THPO):c.*480G>A rs778078910 0.00006
NM_000460.4(THPO):c.24C>T (p.Leu8=) rs373542698 0.00006
NM_000460.4(THPO):c.852G>A (p.Leu284=) rs150122652 0.00005
NM_000460.4(THPO):c.-215T>A rs886058219 0.00004
NM_000460.4(THPO):c.963C>T (p.His321=) rs377138170 0.00004
NM_000460.4(THPO):c.183G>T (p.Leu61=) rs200666378 0.00003
NM_000460.4(THPO):c.14-11C>T rs745850672 0.00001
NM_000460.4(THPO):c.303A>G (p.Gln101=) rs775232517 0.00001
NM_000460.4(THPO):c.310C>A (p.Pro104Thr) rs200191903 0.00001
NM_000460.4(THPO):c.469C>T (p.Arg157Ter) rs1412486198 0.00001
NM_000460.4(THPO):c.518T>C (p.Val173Ala) rs768776540 0.00001
NM_000460.4(THPO):c.796C>T (p.Arg266Cys) rs186070598 0.00001
NM_000460.4(THPO):c.808G>A (p.Gly270Arg) rs759569299 0.00001
NM_001290003.1(THPO):c.98C>T (p.Pro33Leu) rs1208732776 0.00001
NM_000460.4(THPO):c.*108C>T rs1353316698
NM_000460.4(THPO):c.*191T>G rs1713957283
NM_000460.4(THPO):c.*500A>G rs886058217
NM_000460.4(THPO):c.-123C>T rs535707667
NM_000460.4(THPO):c.-31G>T rs771269271
NM_000460.4(THPO):c.-47del rs1714397896
NM_000460.4(THPO):c.-64_-63dup
NM_000460.4(THPO):c.114del (p.Asp39fs) rs768078445
NM_000460.4(THPO):c.13+1G>C rs2108623965
NM_000460.4(THPO):c.13+2T>C rs1714390786
NM_000460.4(THPO):c.13G>A (p.Glu5Lys) rs1460650949
NM_000460.4(THPO):c.229-17_229-14dup rs55827759
NM_000460.4(THPO):c.233A>G (p.Glu78Gly) rs1447030119
NM_000460.4(THPO):c.295C>T (p.Arg99Trp)
NM_000460.4(THPO):c.482G>A (p.Arg161His)
NM_000460.4(THPO):c.517G>A (p.Val173Ile) rs780992873
NM_000460.4(THPO):c.610dup (p.Glu204fs) rs776536238
NM_000460.4(THPO):c.671G>A (p.Gly224Glu) rs886058218
NM_000460.4(THPO):c.740T>C (p.Leu247Pro) rs749011920
NM_000460.4(THPO):c.791_794del (p.Pro264fs) rs760659440
NM_000460.4(THPO):c.805dup (p.Leu269fs) rs1577354471
NM_000460.4(THPO):c.825del (p.Ser276fs) rs2108617673
NM_000460.4(THPO):c.91C>T (p.Arg31Ter)

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